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Thomas L. Muinzer
research in the early years of the twentieth century enabled him to posit that acromegaly and gigantism were the results of growth hormone
hypersecretion (Cushing 1909) and further allowed him to interpret the
central importance of the pituitary in endocrine function (Cushing 1912).
Whilst carrying out this work Cushing appealed to Sir Arthur Keith, then
curator of the Hunterian Museum, to open the skull of the Byrne skeleton. This was done, and Cushing observed the skull’s greatly enlarged
pituitary fossa, allowing him to draw an evidential link between pituitary
adenoma and gigantism.
In the 1960s Bergland obtained the first skull films from the skeleton,
publishing the x-rays along with a brief analysis in 1965 (Bergland
1965). In 1980, Doctors Alexander M Landolt and Milo Zachman also
examined the skeleton, reporting that it exhibited a bone age of around
17 years; Byrne was therefore still growing at the time of his death (Landolt and Zachman 1980).
More recently, a team of endocrinologists led by Marta Korbonits examined the skeleton’s DNA, publishing its findings in 2011 (Korbonits
et al. 2011). The researchers took DNA from two molars, identifying
a germline mutation in the aryl hydrocarbon-interacting protein gene.
They compared the Byrne DNA with DNA taken from a cohort of contemporary families with an incidence of familial isolated pituitary adenoma and found that DNA from four Northern Irish families within
the group exhibited the same mutation. The findings help to elucidate
Northern Ireland’s indigenous connections with gigantism and also allow persons carrying the genetic mutation at present to be monitored and
treated where necessary (Korbonits et al. 2011: 49). The research further
establishes that Byrne and these persons shared a ‘common ancestor’
who lived somewhere between 375 and 3750 years ago, according to
the team’s calculations derived from coalescent theory (Korbonits et al.
2011: 47).